Constipation, failure to thrive and recurrent abscesses: getting to the bottom of an unusual complaint.

QUESTION 1: Which procedure may have been most appropriate to offer an initial clue to her diagnosis? Abdominal X-ray. Digital rectal examination. Perianal swab for streptococcal infection. Sweat test. Ultrasound scan of the abdomen. At 6 months of age, she presented with a second abscess, constipation and poor weight gain. QUESTION 2: What is the most likely diagnosis?  Congenital anorectal anomaly. Cow's milk protein allergy. Hirschsprung's disease. Immunodeficiency disorder. Infantile perianal Crohn's disease. Poor weight gain persisted and she re-presented acutely unwell at 9 months of age with a ruptured perianal abscess. Given these recurrent abscesses, with associated failure to thrive and constipation, further investigations were arranged. MRI scan of the abdomen, pelvis and spine (figure 1) identified a heterogeneous presacral mass with fusion of the distal sacral segments.edpract;archdischild-2018-315317v1/F1F1F1Figure 1Sagittal T2-weighted MRI showing presacral mass, which measured approximately 20×20×19 mm. QUESTION 3: The combination of congenital anorectal stenosis, anterior sacral defect and a presacral mass is also known as: CHARGE syndrome.Currarino syndrome. Klippel-Feil syndrome. Opitz syndrome. VACTERL  (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) association. Answers can be found on page 2.